LGMD "Spotlight Interview"

NAME:  Lisa     ВОЗРАСТ: 50

СТРАНА:   United States of America

LGMD SUB-TYPE:   UNKNOWN

В КАКОМ ВОЗРАСТЕ ВАМ ПОСТАВИЛИ ДИАГНОЗ:

I was diagnosed with LGMD when I was 45 after decades of misdiagnosis

КАКОВЫ БЫЛИ ВАШИ ПЕРВЫЕ СИМПТОМЫ:

My initial symptoms were stiff and numb feeling muscles. But I was an athlete so normal strength test didn’t show weakness. Breathing and cardio were always a struggle too

ЕСТЬ ЛИ У ВАС ДРУГИЕ ЧЛЕНЫ СЕМЬИ, СТРАДАЮЩИЕ ЛГМ:

My sister and nephew have same mutation but extremely mild symptoms so far ( younger).  Kids are being tested now

ЧТО, ПО ВАШЕМУ МНЕНИЮ, ЯВЛЯЕТСЯ НАИБОЛЬШЕЙ ТРУДНОСТЬЮ В ЖИЗНИ С ЛГМД:

Greatest challenges are simple things. Stepping up a curb or lifting groceries and grandbabies.  Getting up from a chair, especially at restaurants etc These seem small but they effect me every day

КАКОЕ ВАШЕ САМОЕ БОЛЬШОЕ ДОСТИЖЕНИЕ:

My greatest accomplishment will always be my kids. My youngest is 12. My biggest fear is not being there for him the way I have been for the rest

КАК БОЛЕЗНЬ ЛГМ ПОВЛИЯЛА НА ТО, ЧТО ВЫ СТАЛИ ТЕМ ЧЕЛОВЕКОМ, КОТОРЫМ ЯВЛЯЕТЕСЬ СЕГОДНЯ:

Difficult question. I try not to let it change me but it does anyway.  I am certainly more aware of challenges people face. Not just my own and not just physically.  I am not a person who likes to depend on others.  I am slowly having to figure out how to accept help without being discouraged

ЧТО ВЫ ХОТИТЕ, ЧТОБЫ МИР УЗНАЛ О ЛГМД:

That it still exists.  That it comes in many forms and there is still no treatment.  I pray daily that gene therapy will be fast tracked

ЕСЛИ БЫ ЗАВТРА ВАШ ЛГМД МОЖНО БЫЛО "ВЫЛЕЧИТЬ", ЧТО БЫ ВЫ СДЕЛАЛИ В ПЕРВУЮ ОЧЕРЕДЬ:

If my LGMD was cured tomorrow I would take my kids to Ireland ( I am Irish).   I would then get back to flipping houses which I love and can no longer do